Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 0.700 | 1.000 | 2 | 2013 | 2013 | |||
|
4 | X | 154536448 | intron variant | C/T | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
38 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 0.800 | 1.000 | 7 | 2010 | 2019 | ||||
|
6 | 22 | 37074184 | intron variant | T/C | snv | 0.61 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||||
|
14 | 0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 | 0.800 | 1.000 | 3 | 2010 | 2019 | ||||
|
3 | 22 | 37110640 | upstream gene variant | T/C | snv | 0.40 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||
|
1 | 22 | 32491795 | non coding transcript exon variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 22 | 32491962 | non coding transcript exon variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 22 | 32492635 | non coding transcript exon variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 22 | 32480660 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1.000 | 0.120 | 22 | 21624807 | downstream gene variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 22 | 37113139 | upstream gene variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 22 | 37113146 | upstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 22 | 37051006 | upstream gene variant | G/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 22 | 37113047 | upstream gene variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 22 | 50523779 | synonymous variant | T/A;G | snv | 0.64 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 22 | 37002601 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 22 | 50505734 | synonymous variant | G/A | snv | 0.61 | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 22 | 37073781 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 22 | 28953318 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 22 | 37006778 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 22 | 37012094 | intron variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 22 | 37012678 | intron variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 22 | 37014926 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 22 | 37039403 | downstream gene variant | T/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2012 | 2012 |